{"orpha":3152,"name":"Sclerosteosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cortical hyperostosis-syndactyly syndrome"],"definition":"Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3152/","orphanet_url":"https://www.orpha.net/en/disease/detail/3152","names":{"fr":{"name":"Sclérostéose","synonyms":["Syndrome d'hyperostose corticale-syndactylie"],"definition":"Syndrome grave et très rare d'hyperostose sclérosante caractérisée sur le plan clinique par une syndactylie variable et une croissance squelettique excessive et progressive (en particulier du crâne), entraînant des traits faciaux distinctifs (hypercroissance mandibulaire, front proéminent, hypoplasie médiofaciale), un piégeage des nerfs crâniens entraînant une paralysie faciale et une surdité, et une élévation potentiellement létale de la pression intracrânienne."},"de":{"name":"Sklerosteose","synonyms":["Hyperostosis corticalis mit Syndaktylie"]},"es":{"name":"Esclerosteosis","synonyms":["Hiperostosis cortical sindactilia"],"definition":"Es un síndrome de hiperostosis esclerosante grave y muy poco frecuente que se caracteriza clínicamente por sindactilia variable e hipercrecimiento esquelético progresivo (en particular del cráneo), lo que provoca rasgos faciales distintivos (hipercrecimiento mandibular, frente prominente, hipoplasia medio facial), atrapamiento de nervios craneales que provoca parálisis facial y sordera, y elevación potencialmente letal de la presión intracraneal."},"it":{"name":"Sclerosteosi","synonyms":["Iperostosi corticale - sindattilia"],"definition":"La sclerosteosi è una sindrome molto rara e grave da iperostosi sclerosante, caratterizzata da sindattilia variabile e iperaccrescimento progressivo dello scheletro (in particolare del cranio), che determina dimorfismi caratteristici (prominenza della mandibola, fronte bombata, ipoplasia medio-facciale), con intrappolamento dei nervi cranici e, secondariamente, paralisi facciale e sordità, ed aumento, potenzialmente letale, della pressione intracranica."},"nl":{"name":"Sclerosteose","synonyms":["Corticale hyperostose - syndactylie-syndroom"],"definition":"Sclerosteose is een zeer zeldzaam en ernstig syndroom met scleroserende hyperostose dat klinisch gekarakteriseerd wordt door variabele syndactylie en progressieve skeletale overgroei (voornamelijk van de schedel), wat leidt tot typische faciale kenmerken (overgroei van de onderkaak, een boller voorhoofd, hypoplasie van het middengezicht), beknelling van hersenzenuwen met gezichtsverlamming en doofheid tot gevolg, en potentieel dodelijke verhoging van de intracraniële druk."},"pt":{"name":"Esclerosteose","synonyms":["Síndrome de hiperostose cortical-sindactilia"]},"pl":{"name":"Sklerosteoza","synonyms":["Hiperostoza korowa - syndaktylia"]},"cs":{"name":"Sklerosteóza","synonyms":["Syndrom zahrnující kortikální hyperostózu a syndaktylii"]},"uk":{"name":"Склеростеоз","synonyms":["Синдром кортикального гіперостозу-синдактилії"],"definition":"Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure."},"zh":{"name":"硬化性狭窄","synonyms":["骨皮质增生-并指(趾)综合征"]},"tr":{"name":"Sklerosteoz","synonyms":["Kortikal hiperostoz-sindaktili sendrom"]}},"xrefs":[{"source":"OMIM","code":"269500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614305","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M85.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"371637416"},{"source":"MONDO","code":"0017838","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537525","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265301","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4771","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"SOST","name":"sclerostin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301406[PMID]","hgnc":"13771","ensembl":"ENSG00000167941","omim":"605740","loci":["17q21.31"]},{"symbol":"LRP4","name":"LDL receptor related protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21471202[PMID]","hgnc":"6696","ensembl":"ENSG00000134569","omim":"604270","loci":["11p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":80.0,"area":"Worldwide","status":"Validated","source":"20301406[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301406[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001233","label":"2-3 finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009838","label":"Curved distal phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005019","label":"Diaphyseal thickening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100798","label":"Fingernail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}